Incidental Mutation 'R5463:Slc22a8'
ID 433131
Institutional Source Beutler Lab
Gene Symbol Slc22a8
Ensembl Gene ENSMUSG00000063796
Gene Name solute carrier family 22 (organic anion transporter), member 8
Synonyms OAT3, mOat3, Roct
MMRRC Submission 043025-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5463 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 8568618-8589199 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 8586638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 383 (R383H)
Ref Sequence ENSEMBL: ENSMUSP00000131045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010251] [ENSMUST00000170817]
AlphaFold O88909
Predicted Effect probably benign
Transcript: ENSMUST00000010251
AA Change: R383H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000010251
Gene: ENSMUSG00000063796
AA Change: R383H

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:Sugar_tr 73 506 6.8e-33 PFAM
Pfam:MFS_1 97 461 6.7e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170817
AA Change: R383H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000131045
Gene: ENSMUSG00000063796
AA Change: R383H

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:Sugar_tr 78 507 6.7e-34 PFAM
Pfam:MFS_1 97 461 6.8e-29 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased urinary urate levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930009A15Rik A C 10: 115,406,104 (GRCm39) probably benign Het
Arhgap29 T A 3: 121,782,200 (GRCm39) S71T possibly damaging Het
BC048507 T C 13: 68,011,817 (GRCm39) Y65H probably damaging Het
C3 T C 17: 57,518,720 (GRCm39) E1221G probably benign Het
Calb1 G T 4: 15,885,656 (GRCm39) V76L probably benign Het
Crybg1 T A 10: 43,879,689 (GRCm39) K500* probably null Het
Csmd1 G A 8: 16,034,860 (GRCm39) T2437I probably benign Het
Cyp27b1 G A 10: 126,887,966 (GRCm39) V493I possibly damaging Het
Cyp3a44 T A 5: 145,740,554 (GRCm39) T29S probably benign Het
Dclk3 T C 9: 111,298,328 (GRCm39) V624A probably benign Het
Dnah6 T C 6: 73,069,140 (GRCm39) I2464V probably benign Het
Dock6 A T 9: 21,721,254 (GRCm39) probably null Het
Erap1 C T 13: 74,794,533 (GRCm39) T64I probably damaging Het
Erbb3 A T 10: 128,405,948 (GRCm39) Y1156* probably null Het
Fam168a G A 7: 100,484,602 (GRCm39) A231T probably benign Het
Farp1 C T 14: 121,472,489 (GRCm39) P208L probably damaging Het
Fbxo30 T C 10: 11,166,813 (GRCm39) Y512H probably damaging Het
Gcnt2 A T 13: 41,071,650 (GRCm39) I98F possibly damaging Het
Got1 G A 19: 43,493,036 (GRCm39) T295I probably benign Het
Herc2 A G 7: 55,844,010 (GRCm39) E3538G probably damaging Het
Kcnmb4 A T 10: 116,309,410 (GRCm39) V6E probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Letmd1 C T 15: 100,367,009 (GRCm39) A2V probably damaging Het
Lynx1 G T 15: 74,623,462 (GRCm39) Y28* probably null Het
Mast1 T C 8: 85,652,136 (GRCm39) E304G probably damaging Het
Nipa1 G A 7: 55,629,205 (GRCm39) Q303* probably null Het
Nomo1 G A 7: 45,712,426 (GRCm39) R657H possibly damaging Het
Or51b4 C T 7: 103,530,541 (GRCm39) R303H probably benign Het
Pcdha7 T A 18: 37,108,628 (GRCm39) L551Q probably damaging Het
Pik3r4 T C 9: 105,525,930 (GRCm39) Y267H probably damaging Het
Pnliprp1 A G 19: 58,723,168 (GRCm39) D223G probably damaging Het
Prph G A 15: 98,953,281 (GRCm39) G65D probably benign Het
Pskh1 T C 8: 106,639,464 (GRCm39) L48P probably benign Het
Ptdss1 C A 13: 67,093,365 (GRCm39) N68K probably damaging Het
Rexo5 G A 7: 119,433,526 (GRCm39) G495R probably damaging Het
Ryr1 C A 7: 28,723,448 (GRCm39) A4204S possibly damaging Het
Serpinb9 G A 13: 33,199,659 (GRCm39) S318N probably damaging Het
Trim26 A G 17: 37,162,016 (GRCm39) H145R probably damaging Het
Trps1 A T 15: 50,695,286 (GRCm39) Y286* probably null Het
Vmn1r181 A G 7: 23,683,787 (GRCm39) N84S probably benign Het
Wdfy4 G T 14: 32,873,689 (GRCm39) Q207K probably benign Het
Whrn G A 4: 63,351,053 (GRCm39) T427I probably benign Het
Other mutations in Slc22a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Slc22a8 APN 19 8,571,499 (GRCm39) missense probably benign 0.37
IGL00679:Slc22a8 APN 19 8,582,219 (GRCm39) missense possibly damaging 0.54
IGL00717:Slc22a8 APN 19 8,587,293 (GRCm39) missense probably benign 0.02
IGL00974:Slc22a8 APN 19 8,587,290 (GRCm39) missense probably damaging 1.00
IGL01104:Slc22a8 APN 19 8,585,329 (GRCm39) missense possibly damaging 0.62
IGL01975:Slc22a8 APN 19 8,582,775 (GRCm39) missense probably damaging 0.96
IGL02025:Slc22a8 APN 19 8,571,539 (GRCm39) missense possibly damaging 0.65
IGL02353:Slc22a8 APN 19 8,585,619 (GRCm39) missense possibly damaging 0.78
IGL02360:Slc22a8 APN 19 8,585,619 (GRCm39) missense possibly damaging 0.78
IGL02535:Slc22a8 APN 19 8,587,567 (GRCm39) missense probably benign
IGL02639:Slc22a8 APN 19 8,571,323 (GRCm39) missense probably benign
IGL03167:Slc22a8 APN 19 8,587,322 (GRCm39) missense probably damaging 1.00
IGL03368:Slc22a8 APN 19 8,586,483 (GRCm39) splice site probably benign
R0333:Slc22a8 UTSW 19 8,585,514 (GRCm39) splice site probably benign
R1290:Slc22a8 UTSW 19 8,587,275 (GRCm39) missense probably damaging 1.00
R1773:Slc22a8 UTSW 19 8,571,593 (GRCm39) missense probably damaging 1.00
R1861:Slc22a8 UTSW 19 8,583,503 (GRCm39) missense probably damaging 1.00
R2516:Slc22a8 UTSW 19 8,587,559 (GRCm39) missense probably benign
R2988:Slc22a8 UTSW 19 8,587,612 (GRCm39) missense probably benign 0.00
R3914:Slc22a8 UTSW 19 8,585,550 (GRCm39) missense probably damaging 1.00
R4206:Slc22a8 UTSW 19 8,585,597 (GRCm39) missense probably benign 0.00
R5092:Slc22a8 UTSW 19 8,571,528 (GRCm39) missense probably damaging 1.00
R5470:Slc22a8 UTSW 19 8,585,234 (GRCm39) missense probably damaging 1.00
R6733:Slc22a8 UTSW 19 8,586,656 (GRCm39) missense probably benign 0.01
R7009:Slc22a8 UTSW 19 8,582,781 (GRCm39) missense probably benign 0.05
R7642:Slc22a8 UTSW 19 8,587,409 (GRCm39) missense probably benign 0.00
R7684:Slc22a8 UTSW 19 8,587,294 (GRCm39) missense probably benign 0.00
R7689:Slc22a8 UTSW 19 8,585,248 (GRCm39) missense probably damaging 0.96
R7729:Slc22a8 UTSW 19 8,571,323 (GRCm39) missense possibly damaging 0.95
R7879:Slc22a8 UTSW 19 8,571,386 (GRCm39) missense probably benign 0.11
R8030:Slc22a8 UTSW 19 8,587,371 (GRCm39) missense probably damaging 0.99
R8113:Slc22a8 UTSW 19 8,582,903 (GRCm39) missense probably benign 0.00
R8280:Slc22a8 UTSW 19 8,586,627 (GRCm39) nonsense probably null
R8492:Slc22a8 UTSW 19 8,571,595 (GRCm39) missense probably damaging 1.00
R8509:Slc22a8 UTSW 19 8,585,339 (GRCm39) critical splice donor site probably null
R8956:Slc22a8 UTSW 19 8,587,030 (GRCm39) nonsense probably null
R9074:Slc22a8 UTSW 19 8,587,025 (GRCm39) missense possibly damaging 0.60
R9158:Slc22a8 UTSW 19 8,583,427 (GRCm39) missense probably damaging 1.00
R9349:Slc22a8 UTSW 19 8,571,469 (GRCm39) missense probably benign 0.00
Z1176:Slc22a8 UTSW 19 8,571,286 (GRCm39) missense probably benign 0.10
Z1177:Slc22a8 UTSW 19 8,582,787 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- ATCCTGGTAATCCATAGGCGATG -3'
(R):5'- GGGATTTGTTCAAGGCCAAC -3'

Sequencing Primer
(F):5'- CTGGAGGTGCTGACCAATG -3'
(R):5'- TTGTTCAAGGCCAACAAAGTG -3'
Posted On 2016-10-06